Emily Kramer-Golinkoff remembers having “a pretty normal childhood,” going to school and running around with her friends at a young age. But while she appeared to be a regular kid, there was trouble beneath the surface. Her body was fighting back.

Kramer-Golinkoff was born with cystic fibrosis (CF), a progressive and fatal genetic condition that affects the cells of the lungs and digestive system. In an average healthy person, these cells secrete a slippery mucous; for those with cystic fibrosis, a mutation causes this mucous to become thick and sticky, which can clog air passages in the lungs and the ducts of other organs. There is no cure.

Emily Kramer-Golinkoff, 31, has advanced-stage cystic fibrosis. (Photo courtesy of Emily Kramer-Golinkoff)

In order to have CF, a person receives two copies of the mutated CFTR gene — and there are more than 1,900 mutations alone, 90 percent of cases resulting from the same type of mutation. So, while a lot of people have the most common type, others do not, and research must be tailored for each of the different mutations.

While certain advancements were being made for some with the condition, large groups were being left out — including Kramer-Golinkoff, who has two copies of a relatively rare mutation belonging to a group of genetic abnormalities called “nonsense mutations.” She guesses, based on estimations, there are only a few hundred other cases just like hers worldwide.

In 2011, “I was seeing my disease worsening, and getting really scared,” she tells Yahoo Health. “Looking at the research, there wasn’t much hope. So, we had a choice to either sit back and accept it or throw ourselves into it.”

Kramer-Golinkoff squeezing in a set of treatments before her best friend’s wedding, for which she was a bridesmaid. 

The now-31-year-old created a homemade video to help fund-raise for cystic-fibrosis research. Her goal: to raise around $50,000 in one year. “We made $40,000 in the first week,” she recalls. “One thing led to another, and now we’ve raised close to $2 million to shine a light on this area in need of more research, focus, and collaboration.”

She’s done it all through her nonprofit Emily’s Entourage, which is helping to advance research for cystic fibrosis with an emphasis on urgency. For the 70,000 men and women currently living with the condition, they don’t have 10 to 15 years to wait for potential new treatments.

Kramer-Golinkoff says Emily’s Entourage has been a saving grace. “It’s given me hope,” she says. “This is my hope for a future. We’re doing everything in our power. With CF, we know how to stop it. Money stands in the way. So we have tons of community events for exposure and to create connections.” And research is advancing, including a 2012 drug breakthrough that President Obama highlighted in his 2015 State of the Union address to show the possibilities of precision medicine.

Emily’s Entourage has held two symposia to further the scientific side, bringing together some of the brightest minds in the CF research community to “think wildly” about new treatments for Kramer-Golinkoff’s form of cystic fibrosis. But the implications reach beyond just those who have her very specific kind of CF. “Most people don’t know that nonsense mutations are responsible for more than a third of all genetic diseases,” Kramer-Golinkoff says. “If we can crack the code for my CF nonsense mutation, there could be a lot of far-reaching effects.”

With a master’s degree in bioethics, Kramer-Golinkoff has gotten familiar with patient advocacy and finding her voice. An introvert by nature, she pushes herself to explain her personal experiences and talk about how people can help those like her, feeling empowered within the medical community instead of helpless.

“You find that when you open your heart and start telling your story, people open their hearts,” she says. More than statistics, “it’s humanity that touches people. It makes them want to give and help. If I can use my story to make changes and help accelerate research, it’s not comfortable, but it’s worth it.”

Emily’s Entourage is about helping in big and small ways, which all have tremendous impact. She says everything from connecting on social media, to volunteering, to donations, all make a big difference.

“We connect with a lot of people through our Facebook and Instagram, which really helps in spreading the word,” says Kramer-Golinkoff. “All donations really help, too, large and small.” She points to her most recent annual fundraising campaign: “Last weekend, on Jan. 9, I turned 31,” she says. “We asked everyone if they could donate $31 for my 31st — and in three days, we raised $10,000. What was so amazing, though, was that we didn’t get one major donation. These were simply gifts from everyday people who saw they could make a difference.

Kramer-Golinkoff’s condition is still worsening. She now has advanced-stage CF — the final stage before end-stage CF, when she must consider risky and often-ineffective options like a lung transplant. On a good day, she has 35 percent lung function. She does three to four hours of breathing treatments with aerosolized medications, followed by airway clearance via an inflatable vest “that literally shakes me to help clear secretions,” Kramer-Golinkoff says.

She also takes a lot of pills and has insulin injections for CF-related diabetes. She does everything she can to reduce her risk of infection; a flu or cold could be life-threatening. Sometimes Kramer-Golinkoff has setbacks, like this past summer when she was hospitalized due to an infection.

Beyond that, Kramer-Golinkoff says she’s been inspired by how a “grassroots” effort has turned into a community, connecting talented researchers and everyday volunteers for a cause in desperate need of attention and advancement.

From left to right: Michael Golinkoff (Emily’s dad), Annie Kramer-Golinkoff (Emily’s sister), Julia Kramer-Golinoff (Emily’s sister), Emily Kramer-Golinkoff, Coby Kramer-Golinkoff (Emily’s brother), Lytton (Emily’s dog, who has since passed), Liza Kramer (Emily’s mom). (Photo courtesy of Emily Kramer-Golinkoff)

And the attention for Emily’s Entourage has been booming. “I think it’s a confluence of factors,” she says. “My disease is progressing and our race is getting more urgent. We’re doing some really groundbreaking work that is changing the paradigm of how research is done, what gets attention, who the players are, and what the pace of progress is. We are constantly pushing the envelope because I literally don’t have time to wait.”

There’s also a snowball effect. When the White House calls to honor you as a Champion of Change for Precision Medicine, the spotlight looms. “That was the ultimate recognition that we’re the real deal — the work we’re doing is truly trailblazing. We’re gaining momentum and the world is noticing and we’re so grateful,” she says.

Grateful. It’s a word Kramer-Golinkoff says a lot. “The gratitude I feel has been overwhelming,” she says. “Everyone is so eager to help — and it’s not something I saw much of before. This experience has restored my faith in people.”

To help and learn more, connect with Emily’s Entourage on Instagram and Facebook, visit the nonprofit’s website, or donate to help with cystic-fibrosis research.

 

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